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Opitz-Kaveggia syndrome/FG syndrome

Inheritance patterns and prenatal diagnosis

Inheritance patterns
X-chromosome linked but it is likely that there is more than one FG syndrome gene on the X-chromosome.

Prenatal diagnosis
This will be possible by DNA testing if the Opitz-Kaveggia/FG syndrome gene mutation has already been identified in an affected relative. Otherwise, an affected fetus might be identified in mid-pregnancy through identification by a detailed ultrasound examination of a particular pattern of abnormalities including a corpus callosum (structure in the brain) abnormality.

View How is it treated? How is it treated?  |  Is there support? View Is there support?

Medical text written August 2005 by Contact a Family. Approved August 2005 by Dr J Tolmie, Last updated August 2007 by Contact a Family and by Dr J Tolmie, Consultant Clinical Geneticist, Ferguson-Smith Centre for Clinical Genetics, Glasgow, UK.

 

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